Genetic Disorders and Rare Diseases: Current Updates

$195.00 – $305.00

Shazlin Shaharudin, Hisham Atan Edinur and Nor Fazila Che Mat
School of Health Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia

Series: Genetics – Research and Issues; Rare Disorders Research Progress
BISAC: MED107000; HEA039060; SCI029000
DOI: https://doi.org/10.52305/WNGG1520

Genetic disorders are diseases caused by mutation in gene(s) or due to chromosomal disorder. Although most genetic diseases are rare, but not all rare diseases are caused by genetic disorders. Due to limited information and lack of access to treatment, the management of rare diseases is frequently complicated. Up to December 2020, a total of 470 rare diseases have been registered and recognised by the Ministry of Health, Malaysia. This book highlights some of the genetic disorders and their resulting rare diseases that have been reported in Malaysia, including their prevalence, molecular mechanism and pathogenesis, besides discussing their diagnosis, treatment and prevention methods. The compilation of thirteen chapters is ultimately aimed at stimulating further research endeavours on the related diseases. Besides serving as an important reference to healthcare authorities, planners, policymakers, students, and the public; Genetic Disorders & Rare Diseases: Current Updates significantly contributes to the betterment of patient outcomes.

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Table of Contents

Preface

Acknowledgments

Chapter 1. Osteosarcopenic Obesity: A Comprehensive Guide to Prevention and Management
Nurdiana Zainol Abidin
1Department of Community Health, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Pulau Pinang, Malaysia
2School of Biosciences, Faculty of Science and Engineering, University of Nottingham Malaysia, Jalan Broga, Semenyih, Selangor, Malaysia

Chapter 2. Fragile X Syndrome
Marjanu Hikmah Elias
Faculty of Medicine & Health Sciences, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia

Chapter 3. Apolipoprotein E (APOE) Genetic Mutation in Alzheimer’s Disease Amongst Malaysians
Muhammad Syahir Hakimi Mohd Hazli1 and Azalina Zainuddin
1Chemical Pathology Department, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia

Chapter 4. Brain-Derived Neurotrophic Factor (BDNF) VAL66MET Gene Polymorphism in Alzheimer’s and Parkinson’s Diseases
Noor Azila Ismail, Rohayu Hami, Mohammad Farris Iman Leong Abdullah and Hazwani Ahmad Yusof Hanafi
Department of Community Health, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Kepala Batas, Pulau Pinang, Malaysia

Chapter 5. Hereditary Colorectal Cancer in Malaysia
Mohd Nizam Zahary
Faculty of Health Sciences, Universiti Sultan Zainal Abidin, Kuala Nerus, Terengganu, Malaysia

Chapter 6. BRCA: Gene Mutations in Breast Cancer
Nur Azzalia Kamaruzaman1, Mazlin Mohideen2, Norsyifa Harun3, Halilol Rahman Mohamed Khan2 and Ana Masara Ahmad Mokhtar4
1National Poison Centre, Universiti Sains Malaysia, Pulau Pinang, Malaysia
2Faculty of Pharmacy and Health Sciences, Universiti Kuala Lumpur-Royal College of Medicine Perak (UniKL-RCMP), Ipoh, Perak, Malaysia
3Centre for Drug Research, Universiti Sains Malaysia, Pulau Pinang, Malaysia
4School of Industrial Technology, Universiti Sains Malaysia, Pulau Pinang, Malaysia

Chapter 7. Von Willebrand Disease: An Inheritable Bleeding Disorder
Noor Haslina Mohd Noor1, Zefarina Zulkafli1, Muhamad Aidil Zahidin1 and Hisham Atan Edinur2
1Hematology Department, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia
2Forensic Programme, School of Health Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia

Chapter 8. α-Thalassaemia: Genetic Variants and Screening Methods
Zefarina Zulkafli1, 2, Noor Haslina Mohd Noor1, 2, Wan Suriana Wan Ab Rahman2,4 and Hisham Atan Edinur3
1Hematology Department, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia
2Transfusion Medicine Unit, Hospital Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia
3Forensic Science Programme, School of Health Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia
4School of Dental Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia

Chapter 9. A Rare Genomic Copy Number Variation in Hypertension-Related Left Ventricular Hypertrophy in the Malaysian Population
Julia Ashazila Mat Jusoh1,2, Hoh Boon Peng3,4 and Khalid Yusoff3,5
1Institute of Medical Molecular Biotechnology (IMMB), UiTM Sungai Buloh, Selangor, Malaysia
2MyGenome Sdn Bhd, Kuala Lumpur, Malaysia
3Faculty of Medicine and Health Sciences, UCSI University, Port Dickson, Negeri Sembilan, Malaysia
4Division of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, International Medical University, Kuala Lumpur, Malaysia
5Faculty of Medicine, UiTM Sungai Buloh Campus, Selangor, Malaysia

Chapter 10. Genetic Susceptibility to Hypertension: A Case for AGT, CYP11B2 and ADRB2 Genes
Nur Hasnah Maamor1,2 and Hoh Boon-Peng1,3
1Faculty of Medicine and Health Sciences, UCSI University, Kuala Lumpur, Malaysia
2Evidence Based Healthcare sector, National Institute of Health, Ministry of Health Malaysia, Malaysia
3Division of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, International Medical University, Malaysia

Chapter 11. E3 Ligase and Deubiquitinating Enzyme (DUB) in Reducing Phenylketonuria Severity
Sa’udah Badriah Mohd Sani1 and Nurulisa Zulkifle
1Department of Biomedical Sciences, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Kepala Batas, Pulau Pinang, Malaysia

Chapter 12. Genetic Mutations and Clinical Diagnoses Associated with Increased Risk of Malignancy in Primary Immunodeficiencies
Aminah Suhaila Haron1, Saiful E. Syafruddin2, Ilie Fadzilah Hashim3, Muggunna Balasubramaniam4, Saw Keat Chuan4, Yasmin Hasnizan4, Nurul Syafawani Fizal4, Chong Chien Fung4 and Ana Masara Ahmad Mokhtar4,5
1Faculty of Dentistry, AIMST University, Bedong, Kedah, Malaysia
2UKM Medical Molecular Biology Institute, Universiti Kebangsaan Malaysia, Cheras, Kuala Lumpur, Malaysia
3Department of Clinical Medicine, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Kepala Batas, Pulau Pinang, Malaysia
4Bioprocess Technology Division, School of Industrial Technology, Universiti Sains Malaysia, Pulau Pinang, Malaysia
5Green Biopolymer Coating and Packaging Centre, School of Industrial Technology, Universiti Sains Malaysia, Pulau Pinang, Malaysia

Chapter 13. The Genetic Landscape of Hereditary Haemochromatosis
Francis Jatta1, Che Ghazali Norul Hajar1, Zefarina Zulkafli2, Noor Haslina Mohd Noor2, Mohd Nazri Hassan2, Abd Rashid Nur Haslindawaty1 and Hisham Atan Edinur1
1School of Health Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia
2School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia

Index

Editors’ Biographie

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